Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Miles-Carpenter syndrome
go back to main search page
Accession:DOID:0060815 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)
Synonyms:exact_synonym: Apraxia, oculomotor, with congenital contractures and muscle atrophy;   Contractures of feet, muscle atrophy, and oculomotor apraxia;   MCS;   MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME;   MRXS4;   Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches;   Mental retardation, X-linked, syndromic 4;   WRWF;   Wieacker Wolff syndrome;   X-linked intellectual disability, Miles-Carpenter type
 primary_id: MESH:C536703;   MESH:C537472
 alt_id: OMIM:314580;   RDO:0002360;   RDO:0003317
 xref: ORDO:85283
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Miles-Carpenter syndrome 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            disease of mental health 5530
              developmental disorder of mental health 2719
                specific developmental disorder 1891
                  intellectual disability 1713
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 659
                        syndromic X-linked intellectual disability 585
                          Miles-Carpenter syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.